Setleis syndrome

Setleis Syndrome is a rare genetic disorder characterized by distinctive facial features, including multiple birthmarks on the face and abnormalities of the eyelids. The condition is named after the physicians who first described it, Dr. Theodore Setleis and his colleagues, in 1969.

Symptoms and Signs

People with Setleis Syndrome often have multiple, distinctive birthmarks on the face that are present from birth. These birthmarks, known as nevus simplex, are usually flat and darkly pigmented. They are typically located on the forehead, upper lip, and sometimes on the nose and cheeks.

In addition to these birthmarks, individuals with Setleis Syndrome often have abnormalities of the eyelids. These can include absent or sparse eyelashes, notches in the upper eyelids, and droopy eyelids (ptosis).

Other features of Setleis Syndrome can include a broad nasal bridge, a prominent forehead, and a large mouth. Some individuals may also have mild intellectual disability.

Causes

Setleis Syndrome is caused by mutations in the TWIST2 gene. This gene provides instructions for making a protein that is involved in the development of the skin and other tissues. Mutations in the TWIST2 gene disrupt the normal development of these tissues, leading to the features of Setleis Syndrome.

Diagnosis

The diagnosis of Setleis Syndrome is based on the characteristic facial features. Genetic testing can confirm the diagnosis by identifying a mutation in the TWIST2 gene.

Treatment

There is currently no cure for Setleis Syndrome. Treatment is focused on managing the symptoms and may include surgery to correct eyelid abnormalities and other facial features.

See Also

• Genetic disorder
• Birthmark
• Nevus simplex
• Ptosis
• TWIST2

References

Setleis syndrome Resources
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